Linked Data
ClinVar Variation Id:
1984
ClinVar RCV Id:
RCV001731272
dbSNP Id:
rs121908722
gnomAD v2:
20-43254221-C-T
gnomAD v3:
20-44625580-C-T
gnomAD v4:
20-44625580-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44625580C>T , CM000682.2:g.44625580C>T | GRCh38 |
| NC_000020.10:g.43254221C>T , CM000682.1:g.43254221C>T | GRCh37 |
| NC_000020.9:g.42687635C>T | NCBI36 |
| NG_007385.1:g.31156G>A , LRG_16:g.31156G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000492931.6:n.558G>A | ||
| ENST00000536076.2:c.314G>A | ENSP00000512234.1:p.Arg105His | |
| ENST00000536532.6:c.467G>A | ENSP00000440946.1:p.Arg156His | |
| ENST00000537820.2:c.467G>A | ENSP00000441818.1:p.Arg156His | |
| ENST00000539235.6:c.219-2502G>A | ENSP00000446464.1:n.219-2502G>A | |
| ENST00000695889.1:c.219-2650G>A | ENSP00000512240.1:n.219-2650G>A | |
| ENST00000695890.1:n.2270G>A | ||
| ENST00000695891.1:c.219-2650G>A | ENSP00000512241.1:n.219-2650G>A | |
| ENST00000695927.1:c.545G>A | ENSP00000512270.1:p.Arg182His | |
| ENST00000695949.1:c.464G>A | ENSP00000512281.1:p.Arg155His | |
| ENST00000695957.1:c.362+876G>A | ENSP00000512286.1:n.362+876G>A | |
| ENST00000695991.1:c.217-2650G>A | ENSP00000512314.1:n.217-2650G>A | |
| ENST00000695992.1:c.467G>A | ENSP00000512315.1:p.Arg156His | |
| ENST00000695993.1:c.467G>A | ENSP00000512316.1:p.Arg156His | |
| ENST00000695994.1:c.467G>A | ENSP00000512317.1:p.Arg156His | |
| ENST00000695995.1:c.217-2502G>A | ENSP00000512318.1:n.217-2502G>A | |
| ENST00000695996.1:n.538G>A | ||
| ENST00000695997.1:n.433+876G>A | ||
| ENST00000696003.1:n.559G>A | ||
| ENST00000696004.1:n.559G>A | ||
| ENST00000696006.1:c.467G>A | ENSP00000512325.1:p.Arg156His | |
| ENST00000696007.1:c.329+876G>A | ENSP00000512326.1:n.329+876G>A | |
| ENST00000696008.1:n.383G>A | ||
| ENST00000696009.1:n.578G>A | ||
| ENST00000696017.1:c.464G>A | ENSP00000512333.1:p.Arg155His | |
| ENST00000696034.1:c.467G>A | ENSP00000512343.1:p.Arg156His | |
| ENST00000696035.1:n.577G>A | ||
| ENST00000696036.1:n.1157G>A | ||
| ENST00000696037.1:n.2144G>A | ||
| ENST00000696038.1:c.*213G>A | ENSP00000512344.1:n.*213G>A | |
| ENST00000696039.1:n.755G>A | ||
| ENST00000696058.1:c.467G>A | ENSP00000512361.1:p.Arg156His | |
| ENST00000696059.1:c.*412G>A | ENSP00000512362.1:n.*412G>A | |
| ENST00000696060.1:c.467G>A | ENSP00000512363.1:p.Arg156His | |
| ENST00000696061.1:c.464G>A | ENSP00000512364.1:p.Arg155His | |
| ENST00000696062.1:c.530G>A | ENSP00000512365.1:p.Arg177His | |
| ENST00000696063.1:c.542G>A | ENSP00000512366.1:p.Arg181His | |
| ENST00000696064.1:c.314G>A | ENSP00000512367.1:p.Arg105His | |
| ENST00000696065.1:c.66-2650G>A | ENSP00000512368.1:n.66-2650G>A | |
| ENST00000696075.1:c.*437G>A | ENSP00000512374.1:n.*437G>A | |
| ENST00000696076.1:c.467G>A | ENSP00000512375.1:p.Arg156His | |
| ENST00000696077.1:c.464G>A | ENSP00000512376.1:p.Arg155His | |
| ENST00000696078.1:c.467G>A | ENSP00000512377.1:p.Arg156His | |
| ENST00000696079.1:c.467G>A | ENSP00000512378.1:p.Arg156His | |
| ENST00000696080.1:c.467G>A | ENSP00000512379.1:p.Arg156His | |
| ENST00000696082.1:c.545G>A | ENSP00000512380.1:p.Arg182His | |
| ENST00000696083.1:n.109G>A | ||
| ENST00000696084.1:n.568G>A | ||
| ENST00000696104.1:c.362+876G>A | ENSP00000512399.1:n.362+876G>A | |
| ENST00000696105.1:c.467G>A | ENSP00000512400.1:p.Arg156His | |
| ENST00000372874.9:c.467G>A MANE Select | ENSP00000361965.4:p.Arg156His | |
| ENST00000372874.8:c.467G>A | ENSP00000361965.4:p.Arg156His | |
| ENST00000464097.5:n.141G>A | ||
| ENST00000492931.5:n.551G>A | ||
| ENST00000536532.5:c.467G>A | ENSP00000440946.1:p.Arg156His | |
| ENST00000537820.1:c.467G>A | ENSP00000441818.1:p.Arg156His | |
| ENST00000539235.5:c.219-2502G>A | ENSP00000446464.1:n.219-2502G>A | |
| NM_000022.2:c.467G>A , LRG_16t1:c.467G>A | NP_000013.2:p.Arg156His | |
| XM_005260236.2:c.467G>A | XP_005260293.1:p.Arg156His | |
| XM_011528478.1:c.73+876G>A | XP_011526780.1:n.73+876G>A | |
| XM_011528479.1:c.73+876G>A | XP_011526781.1:n.73+876G>A | |
| XR_244129.1:n.521G>A | ||
| NM_000022.3:c.467G>A | NP_000013.2:p.Arg156His | |
| NM_001322050.1:c.73+876G>A | NP_001308979.1:n.73+876G>A | |
| NM_001322051.1:c.467G>A | NP_001308980.1:p.Arg156His | |
| NR_136160.1:n.618G>A | ||
| NM_000022.4:c.467G>A MANE Select | NP_000013.2:p.Arg156His | |
| NM_001322050.2:c.73+876G>A | NP_001308979.1:n.73+876G>A | |
| NM_001322051.2:c.467G>A | NP_001308980.1:p.Arg156His | |
| NR_136160.2:n.559G>A |